ClinVar Miner

Submissions for variant NM_138395.4(MARS2):c.928A>G (p.Lys310Glu)

dbSNP: rs771207265
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001328576 SCV001519726 uncertain significance Combined oxidative phosphorylation defect type 25 2019-11-15 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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